ClinVar Miner

List of variants in gene MYO5B reported as pathogenic for not provided

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001080467.3(MYO5B):c.1125G>A (p.Trp375Ter) rs121908104 0.00003
NM_001080467.3(MYO5B):c.1347del (p.Phe450fs) rs1298330895 0.00002
NM_001080467.3(MYO5B):c.2062C>T (p.Arg688Ter) rs1014035512 0.00001
NM_001080467.3(MYO5B):c.3046C>T (p.Arg1016Ter) rs200358260 0.00001
NM_001080467.3(MYO5B):c.3277-2A>G rs1212171741 0.00001
NM_001080467.3(MYO5B):c.3873G>A (p.Trp1291Ter) rs1402652492 0.00001
GRCh37/hg19 18q21.1(chr18:47389413-47419990)x1
NC_000018.9:g.(?_47373086)_(47379803_?)del
NC_000018.9:g.(?_47398517)_(47405480_?)del
NC_000018.9:g.(?_47488616)_(47489420_?)del
NM_001080467.3(MYO5B):c.1087C>T (p.Arg363Ter) rs1239739885
NM_001080467.3(MYO5B):c.1323-2A>C
NM_001080467.3(MYO5B):c.1387C>T (p.Gln463Ter) rs2025577400
NM_001080467.3(MYO5B):c.1455G>A (p.Trp485Ter)
NM_001080467.3(MYO5B):c.1462del (p.Ile488fs)
NM_001080467.3(MYO5B):c.1576C>T (p.Gln526Ter)
NM_001080467.3(MYO5B):c.1860dup (p.Met621fs) rs1258766593
NM_001080467.3(MYO5B):c.1979C>T (p.Pro660Leu) rs121908106
NM_001080467.3(MYO5B):c.2017A>T (p.Arg673Ter)
NM_001080467.3(MYO5B):c.2245C>T (p.Arg749Ter)
NM_001080467.3(MYO5B):c.2330del (p.Gly777fs) rs1568025953
NM_001080467.3(MYO5B):c.244G>A (p.Glu82Lys)
NM_001080467.3(MYO5B):c.2641C>T (p.Gln881Ter) rs1598870169
NM_001080467.3(MYO5B):c.2833del (p.Ser945fs)
NM_001080467.3(MYO5B):c.2971del (p.Glu991fs)
NM_001080467.3(MYO5B):c.2977C>T (p.Gln993Ter)
NM_001080467.3(MYO5B):c.3190C>T (p.Arg1064Ter) rs752799569
NM_001080467.3(MYO5B):c.3337del (p.Tyr1113fs)
NM_001080467.3(MYO5B):c.3502del (p.Glu1168fs) rs1290546936
NM_001080467.3(MYO5B):c.3550del (p.Gln1184fs) rs2144094044
NM_001080467.3(MYO5B):c.3594_3595del (p.Asn1198fs)
NM_001080467.3(MYO5B):c.3803del (p.Ile1268fs)
NM_001080467.3(MYO5B):c.3823C>T (p.Arg1275Ter)
NM_001080467.3(MYO5B):c.3843+1del
NM_001080467.3(MYO5B):c.3961G>T (p.Gly1321Ter) rs932171818
NM_001080467.3(MYO5B):c.4008_4009insCA (p.Lys1337fs)
NM_001080467.3(MYO5B):c.4126C>T (p.Gln1376Ter) rs990825035
NM_001080467.3(MYO5B):c.4168C>T (p.Gln1390Ter)
NM_001080467.3(MYO5B):c.4210_4211dup (p.Asn1404fs)
NM_001080467.3(MYO5B):c.557C>A (p.Ser186Ter)
NM_001080467.3(MYO5B):c.896_897dup (p.Asp300fs)

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